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Primary Swenson Pull-Through Compared With Multiple-Stage Pull-Through in the NeonateSantos, M. C., Giacomantonio, J. M., Lau, H. Y.C. 01 January 1999 (has links)
Background: In Hirschsprung's disease, the trend has been for earlier performance of definitive surgery. In our institution, primary Swenson pull- through has become the preferred procedure. Methods: Retrospective review of the patients treated for Hirschsprung's disease from January 1988 through March 1998 was performed. Sixty-five patients were identified. Median values, analysis of variance and χ2 were used for comparisons. Results: The multiple-stage group (M, n = 47) was similar to the primary group (P, n = 18) for gestational age (40 v 39 weeks), time to meconium passage (37.9 v 35.5 hours), and age at diagnosis (median, M 27 v P 3.5 days). Age (median, M 268 v P 5 days) and weight (mean, M 9.4 v P 3.7 kg; P < .001) at pull-through were lower in the primary group. Length of stay (LOS) was lower in the primary group (mean, M 40,8 v P 20.3 days; P < .05). Operating time for pull- through was decreased in P (mean, M 305.2 v P 272.2 minutes; P = .02). Total complications were lower in the primary group (P = .03), with no differences in mortality or enterocolitis rates. Conclusions: At our institution there were no increases in total complications or enterocolitis in the group undergoing primary Swenson. Primary pull-through is a viable option for the treatment of Hirschsprung's disease.
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Análise do proto-oncogene RET em pacientes com carcinoma medular de tireóide e megacólon congênito de uma família com mutação germinativa p.C620R / Analysis of the RET proto-oncogene in patients with medullary thyroid cancer and congenital mega-colon in a family with germline mutation p.C620RQuedas, Elisangela Pereira de Souza 11 October 2011 (has links)
As Neoplasias endócrinas múltiplas (NEMs) são síndromes herdadas de modo dominante e causadas por mutações germinativas em genes específicos. Caracterizam-se pela presença de tumores em um conjunto de glândulas endócrinas, conjunto este típico de cada tipo-específico de NEM. Dentre os diferentes tipos de NEMs, há a neoplasia endócrina múltipla tipo 2 (NEM2) que envolve os fenótipos, carcinoma medular de tireóide (CMT), hiperparatiroidismo primário (HPT), feocromocitoma (FEO) e megacólon congênito (doença de Hirschsprung, HSCR). Apesar da prevalência da NEM2 na população em geral ser baixa (~ 1:30.000), o número de casos afetados por família pode ser expressivo, uma vez que sua penetrância é praticamente completa (~100%). A doença de HSCR ou aganglionose intestinal congênita quando ocorre está geralmente associada à mutações RET nos códons 609, 618 e 620; apresenta ampla variação fenotípica, padrão de herança complexa e baixa penetrancia. Poucos casos de HSCR podem apresentar mutações em outros genes. Mutações no gene RET são responsáveis por aproximadamente metade (~50%) dos casos familiares de HSCR e alguns casos esporádicos (~10-20%), sugerindo fortemente que a HSCR seja doença poligenica. Tem-se também sugerido que polimorfismos genéticos no RET podem influenciar o fenotipo da NEM2/HSCR. No presente estudo, analisamos o gene RET no sentido de investigar se o desenvolvimento de megacólon em pacientes com a mutação germinativa RET p.C620R estaria associado à presença de ou a) a uma segunda mutação germinativa ou b) a um SNP, ou c) a um haplótipo informativo, que possivelmente poderia estar potencialmente interagindo genicamente com a mutação RET principal e eventualmente modulando o fenótipo HSCR / The multiple endocrine neoplasias (MENs) are inherited multi-tumoral conditions caused by germline mutations in specific genes. Specifically, the multiple endocrine neoplasia type 2 (NEM2) is a hereditary endocrine disorder transmitted dominantly and involving three main tumors, medullary thyroid carcinoma (CMT), primary hyperparathyroidism (HPT) and pheochromocytoma (PHEO). Despite the low prevalence of MEN2 in general population, the number of affected individuals per family can be significant as the penetrance of MEN2 is almost complete (~100%). In addition to CMT, PHEO and HPT, other conditions as congenital megacólon (Hirschsprung disease, HSCR or congenital intestinal aganglionosis) may occur in MEN2 (HSCR/MEN2). HSCR/MEN2 usually is due to RET mutations in codons 609, 618 and 620. HSCR has a wide phenotypic variation; is a complex multigenic disease; and has a low penetrance. Mutations in the RET gene are responsible for approximately 50% of the familial HSCR cases and ~10% of the sporadic HSCR cases, supporting that HSCR is a polygenic disease and this is confirmed by a few HSCR cases associated with mutations in the EDNRB and EDN3 genes. In the present study, we focused in the analysis of the RET gene in order to investigate whether the development of congenital megacólon in patients with RET mutation p.C620R is associated with the presence of, a) a second RET germline mutation, b) a SNP, or with a haplotype that co-segregate with the disease
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Análise do proto-oncogene RET em pacientes com carcinoma medular de tireóide e megacólon congênito de uma família com mutação germinativa p.C620R / Analysis of the RET proto-oncogene in patients with medullary thyroid cancer and congenital mega-colon in a family with germline mutation p.C620RElisangela Pereira de Souza Quedas 11 October 2011 (has links)
As Neoplasias endócrinas múltiplas (NEMs) são síndromes herdadas de modo dominante e causadas por mutações germinativas em genes específicos. Caracterizam-se pela presença de tumores em um conjunto de glândulas endócrinas, conjunto este típico de cada tipo-específico de NEM. Dentre os diferentes tipos de NEMs, há a neoplasia endócrina múltipla tipo 2 (NEM2) que envolve os fenótipos, carcinoma medular de tireóide (CMT), hiperparatiroidismo primário (HPT), feocromocitoma (FEO) e megacólon congênito (doença de Hirschsprung, HSCR). Apesar da prevalência da NEM2 na população em geral ser baixa (~ 1:30.000), o número de casos afetados por família pode ser expressivo, uma vez que sua penetrância é praticamente completa (~100%). A doença de HSCR ou aganglionose intestinal congênita quando ocorre está geralmente associada à mutações RET nos códons 609, 618 e 620; apresenta ampla variação fenotípica, padrão de herança complexa e baixa penetrancia. Poucos casos de HSCR podem apresentar mutações em outros genes. Mutações no gene RET são responsáveis por aproximadamente metade (~50%) dos casos familiares de HSCR e alguns casos esporádicos (~10-20%), sugerindo fortemente que a HSCR seja doença poligenica. Tem-se também sugerido que polimorfismos genéticos no RET podem influenciar o fenotipo da NEM2/HSCR. No presente estudo, analisamos o gene RET no sentido de investigar se o desenvolvimento de megacólon em pacientes com a mutação germinativa RET p.C620R estaria associado à presença de ou a) a uma segunda mutação germinativa ou b) a um SNP, ou c) a um haplótipo informativo, que possivelmente poderia estar potencialmente interagindo genicamente com a mutação RET principal e eventualmente modulando o fenótipo HSCR / The multiple endocrine neoplasias (MENs) are inherited multi-tumoral conditions caused by germline mutations in specific genes. Specifically, the multiple endocrine neoplasia type 2 (NEM2) is a hereditary endocrine disorder transmitted dominantly and involving three main tumors, medullary thyroid carcinoma (CMT), primary hyperparathyroidism (HPT) and pheochromocytoma (PHEO). Despite the low prevalence of MEN2 in general population, the number of affected individuals per family can be significant as the penetrance of MEN2 is almost complete (~100%). In addition to CMT, PHEO and HPT, other conditions as congenital megacólon (Hirschsprung disease, HSCR or congenital intestinal aganglionosis) may occur in MEN2 (HSCR/MEN2). HSCR/MEN2 usually is due to RET mutations in codons 609, 618 and 620. HSCR has a wide phenotypic variation; is a complex multigenic disease; and has a low penetrance. Mutations in the RET gene are responsible for approximately 50% of the familial HSCR cases and ~10% of the sporadic HSCR cases, supporting that HSCR is a polygenic disease and this is confirmed by a few HSCR cases associated with mutations in the EDNRB and EDN3 genes. In the present study, we focused in the analysis of the RET gene in order to investigate whether the development of congenital megacólon in patients with RET mutation p.C620R is associated with the presence of, a) a second RET germline mutation, b) a SNP, or with a haplotype that co-segregate with the disease
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